Results 171 to 180 of about 30,797 (247)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, Volume 13, Issue 11, Page 2375-2381, November 2026.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Predictors and evolution of post-stroke depression among adults admitted for first stroke at referral hospitals in Dodoma, Tanzania: A protocol for a prospective longitudinal observational study. [PDF]

PLoS One
Mandari S, Nyundo A.
europepmc   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, Volume 13, Issue 11, Page 2400-2405, November 2026.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Gastrointestinal Pseudo-Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants. [PDF]

Eur J Neurol
Finsterer J.
europepmc   +1 more source

Neuromorphic Optical Tracking and Imaging of Randomly Moving Targets Through Dynamic Dense Scattering Media

Advanced Science, Volume 13, Issue 63, 12 November 2026.
Vision begins not with images but with change: the retina fires only when something moves, handing the brain a stream of spikes. A neuromorphic imaging system adopts the same strategy—an event sensor that sees like the retina, a spiking network that thinks like the brain—to track and reconstruct fully randomly moving targets through tissue (phantom ...
Ning Zhang, Arto Nurmikko
wiley   +1 more source

Case Report: longitudinal imaging in a patient with SMART syndrome after cranial radiotherapy. [PDF]

Front Oncol
Kim DB, Bel Hadj Jrad H, Bender L, Beck J, Machein M.   +4 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2568-2574, November 2026.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Mitochondrial DNA A3243G variant-associated MELAS: Recent advances in clinical trials, therapeutic interventions, and disease-modifying strategies. [PDF]

Intractable Rare Dis Res
Chu KY.
europepmc   +1 more source

Standardization of measurement and reporting of medication adherence using the TEN‐SPIDERS tool for claims data

British Journal of Clinical Pharmacology, Volume 92, Issue 11, Page 3778-3789, November 2026.
This study provides the first open‐source tool to implement the complete TEN‐SPIDERS framework in linked datasets for the determination of the PDC for medication adherence. The TEN‐SPIDERS tool enables transparent, reproducible medication adherence research through automated reporting of all calculation parameters and flexible customization options ...
Adam C. Livori, Tzu‐Yung Kuo, Jenni Ilomäki, Monique F. Kilkenny, Stella Talic, Zanfina Ademi, J. Simon Bell, Jedidiah I. Morton, Lachlan L. Dalli   +8 more
wiley   +1 more source

Mobile health interventions to improve adherence to oral anticoagulant treatment: A systematic review and critical analysis

British Journal of Clinical Pharmacology, Volume 92, Issue 11, Page 3733-3758, November 2026.
Aims Non‐adherence to oral anticoagulants (OACs) is associated with significant morbidity and mortality. Mobile health (mHealth) interventions have been used to improve medication adherence across the three phases of initiation, implementation and persistence.
Non Davies, Elin Haf Davies, Dyfrig A. Hughes   +2 more
wiley   +1 more source